Varaico: Literature-Extracted Genetic Variants

BCR

1,586 papers

RefSeq Summary

A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this ...

Pfam Domains

Bcr-Abl_Oligoaa 3–75UCSCBcr-Abl oncoprotein oligomerisation domain

RhoGEFaa 502–689UCSCRhoGEF domain

PH_19aa 697–823UCSCPH domain

C2aa 911–1018UCSCC2 domain

RhoGAPaa 1068–1216UCSCRhoGAP domain

Gene Aliases

HGNC Name

BCR activator of RhoGEF and GTPase

HGNC Previous Symbols

D22S11; BCR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004327.4

p.D71delFs

c.211delG

Surrounding Variants

1 paper

NM_004327.4

p.D71N

c.211G>A

1 paper

NM_004327.4

p.Y70N

c.208T>A

1 paper

NM_004327.4

p.Y70D

c.208T>G

1 paper

NM_004327.4

p.S69S

c.207C>T

2 papers

NM_004327.4

p.S69N

c.206G>A

1 paper

NM_004327.4

p.S69T

c.206G>C

2 papers

NM_004327.4

p.R72Q

c.215G>A

3 papers

NM_004327.4

p.R72P

c.215G>C

1 paper

NM_004327.4

p.R72L

c.215G>T

2 papers

NM_004327.4

p.S69_D71del3

c.205_212del9

1 paper

NM_004327.4

p.K68_D71del0

c.204_212del9

1 paper

NM_004327.4

p.K67K

c.201G>A